Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161363401A>T , CM000663.2:g.161363401A>T | GRCh38 |
| NC_000001.10:g.161333191A>T , CM000663.1:g.161333191A>T | GRCh37 |
| NC_000001.9:g.159599815A>T | NCBI36 |
| NG_012767.1:g.54026A>T , LRG_317:g.54026A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001035511.1:c.*861A>T | NP_001030588.1:n.*861A>T |
| NM_001035511.2:c.*861A>T | NP_001030588.1:n.*861A>T |
| NM_001035512.1:c.*968A>T | NP_001030589.1:n.*968A>T |
| NM_001035512.2:c.*968A>T | NP_001030589.1:n.*968A>T |
| NM_001035513.1:c.*968A>T | NP_001030590.1:n.*968A>T |
| NM_001035513.2:c.*968A>T | NP_001030590.1:n.*968A>T |
| NM_001278172.1:c.*861A>T | NP_001265101.1:n.*861A>T |
| NM_001278172.2:c.*861A>T | NP_001265101.1:n.*861A>T |
| NM_003001.3:c.*968A>T , LRG_317t1:c.*968A>T | NP_002992.1:n.*968A>T |
| NR_103459.1:n.1535A>T | |
| NR_103459.2:n.1530A>T | |
| ENST00000367975.6:c.*968A>T | ENSP00000356953.2:n.*968A>T |